A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: Role of Q1507 residue in sodium channel inactivation

Journal of Molecular and Cellular Cardiology

Volumn 35, Issue 12, 2003, Pages 1513-1521

  Keller, Dagmar I ^a   Acharfi, Said ^b   Delacrétaz, Etienne ^c   Benammar, Nawal ^a   Rotter, Martin ^c   Pfammatter, Jean Pierre ^c   Fressart, Véronique ^a   Guicheney, Pascale ^a   Chahine, Mohamed ^b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b LAVAL UNIVERSITY   (Canada)

^c BERN UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Arrhythmia; Long QT syndrome; Persistent inward sodium current; SCN5A gene; Sodium channel; Sudden death

Indexed keywords

LIDOCAINE; SODIUM CHANNEL; SODIUM CHANNEL BLOCKING AGENT; TETRODOTOXIN;

ARTICLE; CHANNEL GATING; CONTROLLED STUDY; DELETION MUTANT; EMBRYO; GENE; GENE DELETION; GENE EXPRESSION; GENE SCN5A; GENE SEQUENCE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; LONG QT SYNDROME; MUTANT; MUTATIONAL ANALYSIS; PATCH CLAMP; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SODIUM CURRENT; STEADY STATE; WILD TYPE;

EID: 0344493809     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2003.08.007     Document Type: Article

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